R65Q (p.Arg65Gln) variant of LIPC (Hepatic triacylglycerol lipase)
R65Q (p.Arg65Gln) in LIPC (Hepatic triacylglycerol lipase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
R65Q (p.Arg65Gln) variant details
- p.Arg65Gln
- rs777672660
- NCI-TCGA Cosmic COSV5442
- cosmic curated COSV54427
- ExAC rs777672660
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.17
- CADD 0.07
- PolyPhen-2 0.01
- SIFT 0.60
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available